|
1
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
2
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0001978)
|
Extramedullary hematopoiesis |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
6
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0008153)
|
Periodic hypokalemic paresis |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0008341)
|
Distal renal tubular acidosis |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
13
|
(OMIM)
|
Normal intelligence or mental retardation |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Osteoclasts fail to form 'ruffled membranes' characteristic of active bone resorbing cells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Carbonic anhydrase II defect |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Visual impairment from optic nerve compression |
|
|
|
|
1 / 7739
|